Individual #00132656

ID_report Case 1
Reference Owen, submitted
Remarks -
Gender M
Consanguinity ?
Country India
Population Labbay sect
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CMS-9
Owner name Ana Topf


Phenotypes

myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency (CMS-9) (CMS-9)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000105422 - - - Familial, autosomal recessive - - - - - Ana Topf



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133490 DNA SEQ-NG blood - - 1 Ana Topf



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
9 Both (homozygous) g.113547962T>A g.110785682T>A - - MUSK_000017 - - - - Germline yes - - 0 - Ana Topf MUSK +?/. - - - - - 13 NM_005592.3:c.1742T>A - - r.(?) p.(Ile581Asn) - - - - - - - - - - - - - - - - - - - - - - -
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